G94A (p.Gly94Ala) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G94A (p.Gly94Ala) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G94A (p.Gly94Ala) variant details
- p.Gly94Ala
- gnomAD rs1249045049
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.39
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available